GeneID = 1376 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 1376
    Gene Symbol CPT2
    Aliases CPT1,CPTASE,IIAE4
    Description carnitine palmitoyltransferase 2
    Organism Homo sapiens
    Location 1p32
    Genomic position NC_000001.10 53662100-53679868 plus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession P23786
    Mammalian Homolog
    (GeneID)
    mouse : 12896
    rat : 25413
  • KOBAS Annotation (Pathway/Disease Annotation)
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • Data comes from PharmGKB PA26849
    PharmGKB AccessionClassName / Gene Symbol (Entrez Gene ID)
    PA448500 Drug atorvastatin
    PA448897 Drug cerivastatin
    PA449688 Drug fluvastatin
    PA451089 Drug pravastatin
    PA134308647 Drug rosuvastatin
    PA451363 Drug simvastatin
    PA444516 Disease Hypercholesterolemia
    PA444528 Disease Hyperlipidemias
    PA444997 Disease Muscular Diseases
    PA157379134 Disease Myalgia unspecified
    PA445028 Disease Myositis
    PA445549 Disease Rhabdomyolysis
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Data comes from DrugBank
    DrugBank DrugIDDrug NameRelated UniProt AccessionGene TypeAction
    DB00583 L-Carnitine P23786 target
    DB01074 Perhexiline P23786 target inhibitor
  • Transporter Substrate Information
  • Genomic Variation --- SNP
  • Data is integrated from dbSNP and HapMap, with functionally annotated by ANNOVAR
    Note: heterozygosity is not actually estimated from 1KG data, but is put in the same line for more compact representation.
    dbSNP rsIDchrpositionpop.alleleallele countfrequencyHapMap pop. diff.genotypegenotype count (frequency) functional annotation
    rs729227 1 53668222 1KG A (minor)4 in 2178 = 0.00184 heterozygosity = 0.00367, with SE = 0.04266 intronic: CPT2
    rs370493 1 53675049 ASW A / G 111 / 3 FET lg p = -62.56

    max diff AF = 0.465
    A/A / A/G / G/G 54 / 3 / 0 intronic: CPT2
    CEU 157 / 69 55 / 47 / 11
    CHB 250 / 24 113 / 24 / 0
    CHD 199 / 19 91 / 17 / 1
    GIH 108 / 94 28 / 52 / 21
    JPT 214 / 12 102 / 10 / 1
    LWK 213 / 7 103 / 7 / 0
    MEX 88 / 28 33 / 22 / 3
    MKK 270 / 42 118 / 34 / 4
    TSI 134 / 70 39 / 56 / 7
    YRI 124 / 0 62 / 0 / 0
    1KG G (minor)398 in 2178 = 0.18274 heterozygosity = 0.29869, with SE = 0.24521
    rs737464 1 53678554 ASW G / A 38 / 74 FET lg p = -73.54

    max diff AF = 0.568
    G/G / A/G / A/A 6 / 26 / 24 intronic: CPT2
    CEU 124 / 102 34 / 56 / 23
    CHB 196 / 78 68 / 60 / 9
    CHD 167 / 51 65 / 37 / 7
    GIH 40 / 162 3 / 34 / 64
    JPT 166 / 60 59 / 48 / 6
    LWK 70 / 150 7 / 56 / 47
    MEX 50 / 66 11 / 28 / 19
    MKK 138 / 174 27 / 84 / 45
    TSI 99 / 105 21 / 57 / 24
    YRI 72 / 222 6 / 60 / 81
    1KG A (minor)1077 in 2178 = 0.49449 heterozygosity = 0.49994, with SE = 0.00551
    rs14829 1 53679874 1KG T (minor)16 in 2178 = 0.00735 heterozygosity = 0.01458, with SE = 0.08414 UTR3: C1orf123
    rs1056438 1 53679878 ASW T / C 102 / 10 FET lg p = -65.30

    max diff AF = 0.431
    T/T / C/T / C/C 46 / 10 / 0 UTR3: C1orf123
    CEU 143 / 83 44 / 55 / 14
    CHB 155 / 115 48 / 59 / 28
    CHD 119 / 99 33 / 53 / 23
    GIH 178 / 20 79 / 20 / 0
    JPT 118 / 104 35 / 48 / 28
    LWK 199 / 21 89 / 21 / 0
    MEX 100 / 16 42 / 16 / 0
    MKK 243 / 67 96 / 51 / 8
    TSI 152 / 52 57 / 38 / 7
    YRI 283 / 11 136 / 11 / 0
    1KG C (minor)597 in 2178 = 0.27410 heterozygosity = 0.39794, with SE = 0.20153
    Limited to 5 records in this page. Click here to view more.
  • Genomic Variation --- CNV
  • Data comes from DGV
    Variation IDPositionVar. TypeGainLossTotal GL InvPubMed
    Variation_5196 chr1:53645563-53724439 U E CopyNumber 1 1 17116639
  • Haplotype Information
  • Data links to UCSC Genome Browser
    ContentHyperlinkDemo example
    HapMap LD Structure (hg18)UCSC
    1000 Genomes Phase I Haplotype Clustering (hg19)UCSC
    Gene Haplotype Allele (hg19)UCSC
  • ENCODE TFBS (Transcription Factor Binding Sites) Information
  • Epigenetic Information
  • Gene Ontology (GO)
  • Protein Sequence & Features
  • Protein Domain Information
  • Protein-Protein Interaction
  • UniGene EST Expression Data
  • Allen Brain Atlas - Mouse Brain Expression Data
  • RNA-seq Expression Data
  • External Links
  • EntrezGeneID 1376
    Gene Symbol and
    Genome Browser
    CPT2
    UCSC Ensembl
    mRNA NM_000098
    protein NP_000089
    Ensembl ENST00000371486; ENSP00000360541; ENSG00000157184
    HPRD 02802
    UniProt Accession P23786
    GeneCards GC01P053662
    UniGene Hs.713535
    HomoloGene 77
    EMBL U09648; M58581; U09646; U09642; U09643; U09644; U09645; AK312687; AL606760; CH471059; BC002445; BC005172
    PIR A39018; A39018
    IPI IPI00012912
    PRIDE P23786
    STRING P23786
    OMIM 255110; 600649; 600650; 608836; 614212
    PharmGKB PA26849
    Reactome REACT_111217; REACT_11163